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(Q04.1) Arhinencephaly
More details coming soon
170 657 in individuals diagnosis arhinencephaly confirmed
9 853 deaths with diagnosis arhinencephaly
6% mortality rate associated with the disease arhinencephaly
Diagnosis arhinencephaly is diagnosed Men are 12.30% more likely than Women
95 827
Men receive the diagnosis arhinencephaly
4 902 (5.1 %)Died from this diagnosis.
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74 830
Women receive the diagnosis arhinencephaly
4 951 (6.6 %)Died from this diagnosis.
Risk Group for the Disease arhinencephaly - Men aged 0 and Women aged 0-5
In Men diagnosis is most often set at age 0-54, 60-69
Less common in men the disease occurs at Age 55-59, 70-95+Less common in women the disease occurs at Age 75-95+
In Women diagnosis is most often set at age 0-74
Disease Features arhinencephaly
Absence or low individual and public risk
Arhinencephaly - what does this mean
Arhinencephaly is a rare neurological disorder that occurs when the brain fails to form properly during early fetal development. it is caused by a mutation in the pax3 gene, which is responsible for controlling the development of the brain and the skull. this leads to severe abnormalities in the brain, including the absence of the cerebrum, the absence of the corpus callosum, and the presence of a thin layer of skin-like tissue instead.
What happens during the disease - arhinencephaly
Arhinencephaly is a rare congenital disorder caused by a disruption in the development of the brain during early gestation. it is characterized by a partial or complete absence of the cerebrum, the largest part of the brain, and a lack of the normal development of the brain's surface structures. this disruption is caused by a mutation in the genes involved in the development of the brain, leading to an abnormal formation of the neural tube. as a result, the brain's structure and function are severely impaired, leading to severe intellectual and physical disabilities.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Order an MRI scan of the head and brain.
- Order a CT scan of the head and brain.
- Order a chromosomal analysis.
- Order genetic testing.
- Order an ultrasound of the head and brain.
- Order an EEG.
- Order a blood test.
- Order a urine test.
Treatment and Medical Assistance
Main goal of the treatment: To reduce the severity of the symptoms associated with Arhinencephaly.
- Regular monitoring of brain function and development
- Physical therapy to improve motor function
- Occupational therapy to improve daily living skills
- Speech therapy to improve communication
- Behavioral therapy to reduce challenging behaviors
- Assistive technology to improve independence
- Medication to control seizures
- Nutritional supplements to improve health
15 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Arhinencephaly - Prevention
Arhinencephaly is a rare neurological disorder that can be prevented through genetic counseling and preimplantation genetic diagnosis. these methods can help identify and screen embryos for the disorder, allowing parents to make informed decisions about their reproductive choices.